A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974388



Internal ID22749323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41730127..41730127hg38UCSC Ensembl
chr17:39886379..39886379hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381486
Samples
Known GenesHAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974388
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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